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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ZFYVE27 - Zinc Finger FYVE-type Containing 27
Alias:
SPG33
PROTRUDIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有几个跨膜结构域、一个Rab11结合结构域和一个脂质结合FYVE手指结构域的蛋白质。编码的蛋白质似乎促进神经突形成。这个基因中的突变已被报道与遗传性痉挛性截瘫有关,然而,这个突变是否仅仅代表多态性,其致病性尚不清楚。[RefSeq,2010年3月提供]
Related ID:
NCBI:118813
ENSEMBL:ENSG00000155256
HGNC:26559
UNIPROT:Q5T4F4
OMIM:610243
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
118813
52
13
23768 bp
45.84
168
1
4
12
ZFYVE27 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
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